ArticlePediatric rheumatology online journal2013
Independent replication analysis of genetic loci with previous evidence of association with juvenile idiopathic arthritis.
Article in Pediatric rheumatology online journal, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
10 citing papers in PubMed, 24 citations in OpenAlex.
- [AF4/FMR2 and IL-10 gene single nucleotide polymorphisms are correlated with disease susceptibility and immune infiltration in ankylosing spondylitis].Nan fang yi ke da xue xue bao = Journal of Southern Medical University · 2023Article
- Genetic Polymorphism ofMedicina (Kaunas, Lithuania) · 2022Review
- Sex Differences in Pediatric Rheumatology.Clinical reviews in allergy & immunology · 2019Review
- Τhe genetics of juvenile idiopathic arthritis: Searching for new susceptibility loci.Molecular medicine reports · 2017Article
- Lectin pathway factors in patients suffering from juvenile idiopathic arthritis.Immunology and cell biology · 2017Article
- Immunogenetics of juvenile idiopathic arthritis: A comprehensive review.Journal of autoimmunity · 2015Review
- The association of PTPN22 rs2476601 with juvenile idiopathic arthritis is specific to females.Genes and immunity · 2015Article
- PTPN22: the archetypal non-HLA autoimmunity gene.Nature reviews. Rheumatology · 2014Review
- Independent confirmation of juvenile idiopathic arthritis genetic risk loci previously identified by immunochip array analysis.Pediatric rheumatology online journal · 2014Article
- Meta-analysis confirms association between TNFA-G238A variant and JIA, and between PTPN22-C1858T variant and oligoarticular, RF-polyarticular and RF-positive polyarticular JIA.Pediatric rheumatology online journal · 2013Article
Corrections and comments
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Authors and funding
7 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOver the last five years, there have been numerous reports of association of juvenile idiopathic arthritis with single nucleotide polymorphisms (SNPs) at various loci outside the major histocompatibility complex (MHC) region. However, the majority of these association findings have been generated using a limited number of international cohorts, and thus there is benefit in further independent replication. To address this, we examined a total of 56 SNPs in 42 non-MHC gene regions previously reported to be associated with JIA, in the ChiLdhood Arthritis Risk factor Identification sTudY (CLARITY), a new Australian collection of cases and healthy child controls.
findingsGenotyping was performed on a total of 324 JIA cases (mean age 9.7 years, 67.3% female) and 568 controls (mean age 7.8 years, 40.7% female). We demonstrated clear evidence for replication of association of JIA with SNPs in or around c12orf30, c3orf1, PTPN22, STAT4, and TRAF1-C5, confirming the involvement of these loci in disease risk. Further, we generated evidence supportive of replication of association of JIA with loci containing AFF3, CD226, MBL2, PSTPIP1, and RANTES (CCL5). These results were robust to sensitivity analyses for ethnicity.
conclusionWe have provided valuable independent data as to the underlying genetic architecture of this understudied pediatric autoimmune disease, further confirming five loci outside the MHC, and supporting a role for a further five loci in determining disease risk.
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Registered trials
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